A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18200129



Internal ID20767169
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:143276501..143288400hg38UCSC Ensembl
chr1:149021685..149033601hg19UCSC Ensembl
Cytoband1q21.2
Allele length
AssemblyAllele length
hg3811900
hg1911917
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6325545
Supporting Variants
Samples
Known GenesLOC101929780
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18200129
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00146


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